81. Céline Dion - The Journey So Far - Céline Supports over the years 1982 Céline accepts the title of Marraine of theQuebec cystic fibrosis Association (QCFA). 1983 Accompanied by http://www.celinedion.com/english/journey_celinesupports2.html

The Journey So Far Awards Photo Gallery Accompanied by the Place des Arts in Montreal. and the in Saint-Hubert, Quebec. A Gift of Love organized by Mrs. Mila Mulroney and featuring David Foster, Christopher Plummer, and many other celebrities. She acts as spokesperson for the first Quebec-wide fundraising draw supporting CF research. To mark the 10th Anniversary of her career and of her volunteer work for the QCFA, she gives a benefit concert at the Montreal Forum and the . During this concert, she announces a major new sponsorship with Royal Airlines that she personally helped to secure for the Canadian CF Foundation. She appears on the 100th episode of the television program Touched by an Angel . Her appearance fee for this episode is donated to the Foundation. Ray-Ban sunglasses to the Academy Awards , in exchange for a contribution to the Canadian Cystic Fibrosis Foundation.

82. The Ortho-McNeil CF Care Website: Home Page Provides people with cystic fibrosis, family members, and the CF community with quick and easy access to education and information. http://www.cfcare.com

Purpose What Is CF? Online Care Center Kids Corner ... Online Order Form This site is intended for U.S. audiences only.

83. Cystic Fibrosis - Chiron cystic fibrosis cystic fibrosis Foundation (CFF) The cystic fibrosis Foundation sponsorsa network of care centers in the US to treat people with the disease. http://www.chiron.com/patients/diseaseOverview/cf.htm

84. Stichting Fibrose Kinderen Op Kamp De stichting Fibrose Kinderen Op Kamp is een uit particulier initiatief voortgekomen stichting, met als doelstelling vakantiekampen te organiseren voor kinderen en jongeren met cystic fibrosis (CF). http://www.stichtingfok.nl/

85. Cystic Fibrosis Disease Profile Genetic Disease Profile cystic fibrosis. For more about the gene that causescystic fibrosis, see the CFTR Gene Profile. Other cystic fibrosis Resources. http://www.ornl.gov/hgmis/posters/chromosome/cf.html

The U.S. Department of Energy Biological and Environmental Research program funds this site. Genetic Disease Profile: Cystic Fibrosis For more about the gene that causes cystic fibrosis, see the CFTR Gene Profile . The following was taken from NIH Publication No. 95-3650 Cystic Fibrosis Timeline Middle Ages - In medieval folklore, infants with salty skin, a symptom of cystic fibrosis, are considered "bewitched" because they routinely die an early death. - Fanconi refers to the previously nameless condition as "cystic fibrosis with bronchiectasis." - Andersen of Columbia University develops the first comprehensive description of cystic fibrosis symptoms. - Lowe establishes that cystic fibrosis is a recessive genetic disorder. - After observing excessive dehydration of cystic fibrosis patients during a New York City heat wave, di Sant' Agnese of Columbia University formally reports to the American Pediatric Society that CF patients secrete excessive amounts of salt in their sweat. This observation leads to development of the sweat test as a diagnostic standard for cystic fibrosis. Early 1980's - Researchers associate organ damage caused by CF with a malfunction of the epithelial tissue.

86. Cystic Fibrosis Gene The cystic fibrosis Gene. Approximate Official Gene Symbol CFTR. Name ofGene Product cystic fibrosis transmembrane conductance regulator. Locus http://www.ornl.gov/hgmis/posters/chromosome/cftr.html

The U.S. Department of Energy Biological and Environmental Research program funds this site. The Cystic Fibrosis Gene Approximate gene location is based on Chromosome 7 map from NCBI Entrez Map Viewer. Official Gene Symbol: CFTR Name of Gene Product: cystic fibrosis transmembrane conductance regulator Locus: 7q31.2 The CFTR gene is found in region q31-q32 on the long (q) arm of human chromosome 7. Size: The CFTR gene's coding regions (exons) are scattered over 250,000 base pairs (250 kb) of genomic DNA. The 27 exons translated into the CFTR protein are interspersed with large segments of noncoding DNA (introns). During transcription, introns are spliced out and exons are pieced together to form a 6100-bp mRNA transcript that is translated into the 1480 amino acid sequence of CFTR protein [5]. Protein Function: The normal CFTR protein is a chloride channel protein found in membranes of cells that line passageways of the lungs, pancreas, colon, and genitourinary tract. CFTR is also involved in the regulation of other transport pathways. Defective versions of this protein, caused by CFTR gene mutations, cause cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD) [2].

87. Wescor Inc. Manufactures osmometers, slide stainers, cytocentrifuges, dairy mastitis detection systems, and cystic fibrosis diagnosis equipment. http://www.wescor.com/

About Wescor Employment at Wescor How to Contact Wescor Sweat Testing Instruments About Wescor Employment at Wescor How to Contact Wescor Sweat Testing Instruments ... Weather and Soil

88. TOBI® - Tobramycin Solution For Inhalation For Treatment Of Pseudomonas Aerugin Information on Tobramycin Solution for Inhalation (TOBI) for pseudomonas infection, by pharmaceutical Category Health Conditions and Diseases...... is an inhaled, aerosolized antibiotic indicated for the treatment and managementof Pseudomonas aeruginosa lung infections in patients with cystic fibrosis. http://www.abouttobi.com/

This site intended for U.S. residents only. U.S. patent issued April 1996.

89. CF Advantage The mutation that causes deadly cystic fibrosis has survived for 52,000 years perhaps because it offers protection against diarrhea. By Josie Clausiusz http://wsrv.clas.virginia.edu/~rjh9u/cysfib.html

Hidden Benefits Josie Clausiusz The mutation that causes deadly cystic fibrosis has survived for 52,000 years - perhaps because it offers protection against diarrhea. When humans left the Near East and invaded Europe around 40,000 years ago, they took with them bone and stone tools for hunting and engraving, early art in the form of beads and pendants, and social skills that were probably superior to those of Europe's resident Neanderthals. It now seems they also took with them a mutant gene: the gene for the deadly disease cystic fibrosis. So robust is this gene that it spread all over Europe; cystic fibrosis is now the most common fatal genetic disorder among Caucasians. How could the disease have been passed from generation to generation for so long, when until the advent of modern medicine it generally killed people before they could have children? Recent experiments on mice offer an answer. They suggest that the 5 percent of all Caucasians who carry just one copy of the cystic fibrosis gene - and thus don't suffer from the disease - are protected against another deadly scourge: diarrhea. The gene for cystic fibrosis was discovered in 1989. It codes for a protein that forms channels in cell membranes, especially the cells lining the intestines and airways. Normally these channels funnel chloride ions out of a cell, thus making its surroundings saltier; that in turn draws water out of the cell by osmosis. In the lungs this fluid washes away bacteria and other unwanted debris. In the intestines it does the same and also brings digestive enzymes into contact with food. In sweat glands chloride channels have an additional function; they recycle salt out of the glands and back into the skin before it can be lost to the outside world.

90. CSHL - Press Release - RNA Splicing Study Aids Understanding Of Breast Cancer, C April 16, 2001. RNA Splicing Study Aids Understanding of Breast Cancer,cystic fibrosis and Other Diseases Cold Spring Harbor, NY http://www.cshl.org/public/releases/krainer041601.html

Search For More Information, Call: Peter W. Sherwood, Ph.D. at (516) 367-6947 For Immediate Release: April 16, 2001 RNA Splicing Study Aids Understanding of Breast Cancer, Cystic Fibrosis and Other Diseases Cold Spring Harbor, NY Mutations in the breast cancer susceptibility gene BRCA1 are responsible for approximately 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer. Certain "nonsense" mutations in the BRCA1 gene are known to cause RNA splicing defects ("exon skipping"), which lead to the production of abnormal BRCA1 proteins that are missing a particular segment. Until now, scientists have lacked a clear understanding of this phenomenon, which they term nonsense-associated altered splicing, or NAS. A recent study by researchers at Cold Spring Harbor Laboratory explains the mechanism of NAS and other related RNA splicing defects. The study has important implications for understanding and treating not only breast and ovarian cancer, but many other diseases including cystic fibrosis, Fanconi anemia, Duchenne muscular dystrophy, and one of the most common inherited disorders in humans, neurofibromatosis. Within genes, DNA serves as a template for the production of messenger RNA, which in turn is a template for the production of proteins. Messenger RNA molecules typically contain protein-coding regions called "exons" as well as non protein-coding regions called "introns." Introns are removed from messenger RNA by a splicing mechanism that joins exons together.

91. Division Of Genetics, URMC Featured is information on laboratory testing, genetic susceptibility to cancer, cystic fibrosis, and sickle cell, thalassemia and other hemoglobinopathies. In addition there are links to counseling services, the graduate program, the Sickle Cell Clinic, newsletters, and list of staff. http://www.urmc.rochester.edu/Genetics/

Home Services Counseling Services Sickle Cell Clinic Newsletters OncoGene News Sickle Selections Staff Department of Medicine The Division of Genetics offers information on: Genetic Susceptibility to Cancer Sickle Cell, Thalassemia and other Hemoglobinopathies Breast Cancer Recommendations Brochure* A Patient's Perspective Colon Cancer Brochure* Recommendations Brochures/Fact Sheets Our Role in Newborn Screening* ... Our latest Sickle Selections Newsletter *These files are available as Adobe Acrobat Reader 3.0 files - online versions that look just like the originals. The Adobe Acrobat Reader software is freely available for you to download and use from Adobe's software site. Comments/Suggestions to: Mary_True@urmc.rochester.edu . For questions or suggestions concerning the content of these pages, contact the URMC Webmaster

92. Mutations Thus the 6th amino acid in the chain becomes valine instead of glutamic acid. ANOTHEREXAMPLE Patient A with cystic fibrosis (scroll down). Nonsense mutations. http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Mutations.html

Index to this page Single-base substitutions Missense mutations Nonsense Silent mutations ... Somatic vs. Germline Mutations Mutations In the living cell, DNA undergoes frequent chemical change, especially when it is being replicated (in S phase of the eukaryotic cell cycle ). Most of these changes are quickly repaired. Those that are not result in a mutation. Thus, mutation is a failure of DNA repair Link to discussion of DNA repair. Single-base substitutions A single base, say an A, becomes replaced by another. Single base substitutions are also called point mutations . (If one purine [A or G] or pyrimidine [C or T] is replaced by the other, the substitution is called a transition . If a purine is replaced by a pyrimidine or vice-versa, the substitution is called a transversion Missense mutations With a missense mutation, the new nucleotide alters the codon so as to produce an altered amino acid in the protein product. EXAMPLE: sickle-cell disease The replacement of A by T at the 17th nucleotide of the gene for the beta chain of hemoglobin changes the codon GAG (for glutamic acid ) to GTG (which encodes valine ). Thus the 6th amino acid in the chain becomes valine instead of glutamic acid.

93. Welcome To Genevieve's Cystic Fibrosis Site Genevieve Broom's personal journey living with the disease, cystic fibrosis,and alternative therapies she has used as well as antibiotics. http://www.angelfire.com/ok4/cfgen/

Welcome to Genevieve's Cystic Fibrosis Website!! The red rose has been adopted as the universal sign for Cystic Fibrosis. Apparently a young child struggled to say the name, and said "65 Roses". In Australia, a week in October is dedicated to CF week - to help raise money for a cure. So if you see people selling Red Roses, please help our cause. My name is Genevieve. I was born in 1975, and I have a disease called Cystic Fibrosis. In this website, I talk about my personal story with CF, and alternative therapies I have used besides antibiotics. I will constantly update this site with new topics, so please make sure you come back to visit. Cystic Fibrosis is the most common life - threatening condition affecting Australian children. Today with earlier diagnosis, better understanding of the condition and better treatment of the disease, more and more children are reaching adulthood. As CF patients are living longer and healthier lives, new issues develop, such as marriage, being independent, family planning and financial concerns. With such a growing awareness of the disease, these important things and more are being addressed. Genevieve and her sister Di during Di's recent Australia holiday.

94. Cystic Fibrosis Gene Mutations Missing From Some Cases A new study from Johns Hopkins finds that some patients diagnosed with cystic fibrosis(CF) lack any of cystic fibrosis Gene Mutations Missing From Some Cases. http://www.hopkinsmedicine.org/press/2002/October/021014A.htm

October 14, 2002 MEDIA CONTACT: Joanna Downer PHONE: E-MAIL: jdowner1@jhmi.edu Cystic Fibrosis Gene Mutations Missing From Some Cases A new study from Johns Hopkins finds that some patients diagnosed with cystic fibrosis (CF) lack any of the more than 1,000 reported disease-causing mutations in the only known CF gene. Scheduled for presentation Oct. 18 at the annual meeting of the American Society for Human Genetics in Baltimore , the findings also recently appeared in the New England Journal of Medicine The discovery may mean that another gene, as yet unidentified, is to blame for these cases, or perhaps these patients really have another, unknown disease, despite the similarity of symptoms, the researchers suggest. Loss of the function of a protein called CFTR was identified more than a decade ago as the cause of CF, a life-shortening disease characterized by frequent, severe lung infections. In less severe cases, known as "non-classic" CF, patients retain some working CFTR, but not at normal levels. Over the years, scientists have linked these conditions to more than 1,000 changes in the gene for CFTR. "Our findings should lead to a discussion about what is, and is not, non-classic cystic fibrosis," says Garry Cutting, M.D., director of the DNA Diagnostic Lab at the McKusick-Nathans Institute of Genetic Medicine at Hopkins. "Hopefully, extensive clinical evaluation of patients without identifiable changes in the gene for CFTR will improve diagnosis and treatment of cystic fibrosis and cystic fibrosis-like conditions."

95. Cystic Fibrosis Information cystic fibrosis Information site containing information about CF, it's symptoms,diagnosis, treatment, coping, helpful links to other sites and hope! http://pw1.netcom.com/~yourman/webdoc1.htm

Cystic Fibrosis (CF) is the most common recessive genetic disease. CF affects approximately 30,000 children and young adults. It occurs in approximately one of every 3,300 live births. The median age of survival is 31 years. The most common symptoms of CF are salty-tasting skin; persistent coughing, wheezing or pneumonia; excessive appetite but poor weight gain; and bulky, foul-smelling stools. CF causes the body to produce an abnormally thick, sticky mucus. This abnormal mucus clogs the lungs and leads to lung infections. The thick CF mucus also obstructs the pancreas, preventing enzymes from reaching the intestines to digest food. A child must inherit a defective copy of the CF gene (one from each parent) to have cystic fibrosis. Each time two carriers conceive a child, there is a 25 percent chance that the child will have CF; a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will be a non-carrier. Cystic Fibrosis is not contagious, and therefore cannot be transmitted from person to person. The treatment of CF can include postural drainage (also called chest physical therapy [CPT]), requires vigorous percussion (by using cupped hands) on the back and chest to dislodge the thick mucus from the lungs. Antibiotics are also used to treat lung infections. CF also can affect the digestive system, the body does not absorb enough nutrients, therefore the need to eat an enriched diet and take both replacement vitamins and pancreatic enzymes.

96. NIH News Release--Gene Alterations For Cystic Fibrosis May Also Account For Chro Gene Alterations for cystic fibrosis May Also Account for Chronic Sinus Problemsin Some. The cystic fibrosis Foundation also supported the research. http://www.nih.gov/news/pr/oct2000/niaid-10.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Allergy and Infectious Diseases EMBARGOED FOR RELEASE Tuesday, October 10, 2000 4:00 p.m. EST Contact: NIAID Office of Communications and Public Liaison Gene Alterations for Cystic Fibrosis May Also Account for Chronic Sinus Problems in Some Gene alterations known to cause the inherited disorder cystic fibrosis (CF), which is characterized by mucous membrane abnormalities in the lungs, appear also to contribute to chronic sinus problems in some people, according to a report in this week's Journal of the American Medical Association . About 14 percent of the general U.S. population suffers from chronic sinusitis, a persistent and often painful inflammation of the mucous membranes in the sinus cavities around the nose and eyes and forehead. The disease occurs frequently in patients with asthma and also in people with allergic rhinitis. "The study is among the first to investigate the genetic basis of chronic sinusitis, a common and troublesome disorder. It provides new insights into the cause of the disease in some people and points to new strategies for diagnosis and treatment," says Marshall Plaut, M.D., of the National Institute of Allergy and Infectious Diseases (NIAID). "It represents a new and important research direction." The study was supported by NIAID, the National Institute of Diabetes and Digestive and Kidney Diseases, and the National Center for Research Resources, all components of the National Institutes of Health (NIH). The Cystic Fibrosis Foundation also supported the research.

97. Cystic Fibrosis cystic fibrosis is a lung and digestive disease that requires constant medical careand medication. Pulmonary, airways, breathing. cystic fibrosis Guide picks. http://specialchildren.about.com/cs/cysticfibrosis/

zfp=-1 About Parenting Special Needs Search in this topic on About on the Web in Products Web Hosting Parenting Special Needs with Jody Swarbrick Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS We're in this Together RAD Forum "Support Center" Start a Support Group ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Cystic Fibrosis Guide picks Cystic Fibrosis is a genetic disorder that disrupts the normal function of the lungs and digestive system. Treatment requires a great amount of medical care and knowledge. About Cystic Fibrosis A debilitating genetic disorder characterized by lung and digestive problems. About's Guide to Pediatrics, Vincent Iannelli, MD offers substantial information. National Cystic Fibrosis Awareness Week Join the About Guides in bringing CF awareness to the forefront. Boomer Esiason Foundation Tons of news and current info from the foundation started by a football hero who lost his son to CF. Cystic Fibrosis 101 A great place for those just beginning to gather information about the disease.

98. New Theory Proposed For Cystic Fibrosis Infections 19, 2001, 500 pm Sam Perdue (301) 4021663 sp189u@nih.gov New Theory Proposedfor cystic fibrosis Infections cystic fibrosis (CF) is a fatal lung disease http://www.niaid.nih.gov/newsroom/releases/pathogenesis.htm

FOR IMMEDIATE RELEASE Monday, Nov. 19, 2001, 5:00 p.m. Sam Perdue sp189u@nih.gov New Theory Proposed for Cystic Fibrosis Infections Cystic fibrosis (CF) is a fatal lung disease caused by an altered gene, but how the gene affects cells is not completely understood. Now, researchers have new evidence suggesting the gene can change the internal chemistry of some lung cells, making them more susceptible to certain bacteria that cause sickness and, ultimately, death. The investigators also used a simple process to correct those changes in the test tube. The study appears in the Proceedings of the National Academy of Sciences online early edition. "This research proposes a novel explanation for why lung infections are so persistent in cystic fibrosis," says Christopher Taylor, Sc.D., an expert on bacterial respiratory diseases with the National Institute of Allergy and Infectious Diseases (NIAID), which funded the study. "If additional studies support the findings presented here, we will have a better understanding of the disease and perhaps new ways to treat it." People with CF battle chronic respiratory infections and have difficulty breathing because of mucus accumulation in the lungs. Most patients ultimately die from a buildup of

99. Cystic Fibrosis Ibuprofen Laboratory The cystic fibrosis Ibuprofen Laboratory (located at Case Western Reserve Universityin Cleveland, Ohio) provides ibuprofen analyses and therapeutic http://www.cwru.edu/affil/CFIBUPLAB/cfibuplab.htm

100. HHCS - Your One Stop Pharmacy Center HHCS Health Group is a fullservice pharmacy, disease management and medical managementcompany encompassing the cystic fibrosis pharmacy, medi-paws pet http://www.hhcs.com/

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